Kozak L - Search Results

1

No apparent involvement of the FMR1 gene in five patients with phenotypic manifestations of the fragile X syndrome.

Chiurazzi P, de Graaff E, Ng J, Verkerk AJ, Wolfson S, Fisch GS, Kozak L, Neri G, Oostra BA. Chiurazzi P, et al. Among authors: kozak l. Am J Med Genet. 1994 Jul 15;51(4):309-14. doi: 10.1002/ajmg.1320510405. Am J Med Genet. 1994. PMID: 7942992

2

Unstable triplets and their mutational mechanism: size reduction of the CGG repeat vs. germline mosaicism in the fragile X syndrome.

Chiurazzi P, Kozak L, Neri G. Chiurazzi P, et al. Among authors: kozak l. Am J Med Genet. 1994 Jul 15;51(4):517-21. doi: 10.1002/ajmg.1320510446. Am J Med Genet. 1994. PMID: 7943033 Review.

3

Mapping of a gene for non-specific X linked mental retardation: evidence for linkage to chromosomal region Xp21.1-Xp22.3.

Kozák L, Chiurazzi P, Genuardi M, Pomponi MG, Zollino M, Neri G. Kozák L, et al. J Med Genet. 1993 Oct;30(10):866-9. doi: 10.1136/jmg.30.10.866. J Med Genet. 1993. PMID: 8230164 Free PMC article.

4

Fragile X founder chromosomes in Italy: a few initial events and possible explanation for their heterogeneity.

Chiurazzi P, Genuardi M, Kozak L, Giovannucci-Uzielli ML, Bussani C, Dagna-Bricarelli F, Grasso M, Perroni L, Sebastio G, Sperandeo MP, Oostra BA, Neri G. Chiurazzi P, et al. Among authors: kozak l. Am J Med Genet. 1996 Jul 12;64(1):209-15. doi: 10.1002/(SICI)1096-8628(19960712)64:1<209::AID-AJMG38>3.0.CO;2-P. Am J Med Genet. 1996. PMID: 8826478

5

Haplotype analysis of the fragile X syndrome gene FMR1 in the Czech Republic.

Pekarík V, Blazková M, Kozák L. Pekarík V, et al. Among authors: kozak l. Am J Med Genet. 1999 May 28;84(3):214-6. doi: 10.1002/(sici)1096-8628(19990528)84:3<214::aid-ajmg9>3.3.co;2-1. Am J Med Genet. 1999. PMID: 10331594

6

Mutation and haplotype analysis of phenylalanine hydroxylase alleles in classical PKU patients from the Czech Republic: identification of four novel mutations.

Kozák L, Blazková M, Kuhrová V, Pijácková A, Růzicková S, St'astná S. Kozák L, et al. J Med Genet. 1997 Nov;34(11):893-8. doi: 10.1136/jmg.34.11.893. J Med Genet. 1997. PMID: 9391881 Free PMC article.

7

Prenatal diagnosis of Smith-Lemli-Opitz syndrome by mutation analysis.

Bzdúch V, Kozák L, Francová H, Behúlová D. Bzdúch V, et al. Among authors: kozak l. Am J Med Genet. 2000 Nov 6;95(1):85. doi: 10.1002/1096-8628(20001106)95:1<85::aid-ajmg18>3.0.co;2-9. Am J Med Genet. 2000. PMID: 11074502 No abstract available.

8

Presence of a deletion in the 5' upstream region of the GALT gene in Duarte (D2) alleles.

Kozák L, Francová H, Pijácková A, Macku J, Stastná S, Peskovová K, Martincová O, Krijt J. Kozák L, et al. J Med Genet. 1999 Jul;36(7):576-8. J Med Genet. 1999. PMID: 10424825 Free PMC article. No abstract available.

9

Genotyping microarray as a novel approach for the detection of ATP7B gene mutations in patients with Wilson disease.

Gojová L, Jansová E, Külm M, Pouchlá S, Kozák L. Gojová L, et al. Among authors: kozak l. Clin Genet. 2008 May;73(5):441-52. doi: 10.1111/j.1399-0004.2008.00989.x. Epub 2007 Mar 25. Clin Genet. 2008. PMID: 18371106

10

Phenylketonuria mutations and their relation to RFLP haplotypes at the PAH locus in Czech PKU families.

Kozák L, Kuhrová V, Blazková M, Romano V, Fajkusová L, Dvoráková D, Pijácková A. Kozák L, et al. Hum Genet. 1995 Oct;96(4):472-6. doi: 10.1007/BF00191809. Hum Genet. 1995. PMID: 7557973

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